MITOMAP References for Mutation G-A at 7887

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1 34325999 2021 Baty, K., Farrugia, M. E., Hopton, S., Falkous, G., Schaefer, A. M., Stewart, W., Willison, H. J., Reilly, M. M., Blakely, E. L., Taylor, R. W., Ng, Y. S. (2021) A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity Neuromuscular Disorders . 31 (11): 1186-1193 .